CONTACT: BECKY SOGLIN
Iowa City IA 52242
(319) 335-6660; fax (319) 384-4638
Release: Jan. 2, 2002
UI researchers receive $6.4 million grant to study Huntington's disease
CITY, Iowa -- Slowing a disease before any symptoms are visible may seem like
a difficult task. However, University of Iowa Health Care investigators are
taking on that challenge for people who will develop Huntington's disease
(HD), a hereditary genetic condition that affects the central nervous system
and causes significant personality changes, involuntary bodily movements,
progressive dementia and early death.
A $6.4 million grant, effective last Sept. 1, from the National Institute
of Neurological Disorders and Stroke will allow the UI team to lead a multi-center
investigation of early brain and behavioral changes in persons who currently
are healthy but have the abnormal genetic mutation for Huntington's disease.
The findings could help lead to future trials of experimental drugs to slow
HD before symptoms are obvious.
The study is the first to focus on possible treatments for people who carry
the genetic markers for HD, but who do not yet have symptoms, and reflects
the nation's shift in health care from disease treatment to its prediction
and prevention, said Jane S. Paulsen, Ph.D., UI professor of psychiatry, neurology,
and psychology, and principal investigator of the study.
Paulsen will lead the recruitment and investigation of 500 persons at risk
for HD who will be seen at 20 study sites throughout the United States and
Canada. Recruitment for the study, known as PREDICT-HD (Neurobiological Predictors
of Huntington's Disease), will begin in 2002. Individuals who carry the genetic
mutation that causes HD almost invariably develop the disease unless they
first die of some other cause.
"Although all current treatments for HD are aimed at reducing symptoms,
slowed disease progression and delayed onset of disease have been demonstrated
in animal models," Paulsen said.
"As treatments become available for genetic disease, healthy persons
who are at risk want to see whether certain measures can prevent the onset
of disease. Before neuropreventive therapy for HD can begin, however, we must
determine the answer to two essential questions."
Paulsen said the first question is, "When should preventive therapy
be started?" and the second is, "How can we determine whether a
treatment actually is stalling disease onset?"
To address these concerns, the PREDICT-HD study will obtain brain scans and
sophisticated measures of brain processing in healthy persons who have the
defective HD gene to detect the earliest indicators of disease.
Preliminary studies suggest that people with HD may have significant decline
prior to actual clinical diagnosis of the disease. The study will help reveal
which factors influence the age at which a person carrying the HD gene develops
Huntington's disease typically strikes people from ages 30 to 55 and, over
a 15 to 30-year period, dramatically reduces their ability to think, make
sound judgments and control their emotions and coordination.
The condition affects nearly 30,000 Americans and puts another 250,000 at
risk. HD is the only lethal genetic disease known in humans that is dominantly
inherited. This means that in a person with HD, one defective gene (inherited
from one parent) dominates the normal gene (inherited from the other parent)
and causes the person to have the condition. A child who has one parent with
HD has a 50 percent chance of inheriting the disorder.
Other lethal genetic diseases, such as cystic fibrosis, are recessive and
thus require two copies of a mutated gene (one from each parent) for a person
to inherit the condition.
For more than 12 years, Paulsen's lab has focused on identifying the subtle
neuropsychological characteristics of Huntington's disease in its very early
stages. Her work is part of the UI Huntington's Disease Center of Excellence,
a designation awarded by the Huntington's Disease Society of America. Paulsen
co-directs the center, along with Henry L. Paulson, M.D., Ph.D., UI assistant
professor of neurology, and Robert Rodnitzky, M.D., UI professor of neurology.
In addition to PREDICT-HD study, the UI center has other studies in progress
on HD and its effects on individuals and families at risk or already affected
The PREDICT-HD study is endorsed by the Huntington Study Group, a collaborative
international research team which is supported by the Huntington's Disease
Society of America in New York; the Huntington's Disease Society of Canada,
Cambridge, Canada; and the Hereditary Disease Foundation of Santa Monica,
University of Iowa Health Care describes the partnership between the
UI College of Medicine and the UI Hospitals and Clinics and the patient care,
medical education and research programs and services they provide. Visit UI
Health Care online at www.uihealthcare.com.